NTHL1 (nth like DNA glycosylase 1)

2003-12-01 Affiliation

Identity

HGNC

NTHL1

LOCATION

16p13.3

LOCUSID

4913

ALIAS

FAP3,NTH1,OCTS3,hNTH1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4913
MIM: 602656
HGNC: 8028
Ensembl: ENSG00000065057

Variants:

dbSNP: 4913
ClinVar: 4913
TCGA: ENSG00000065057
COSMIC: NTHL1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000065057	ENST00000219066	P78549
ENSG00000065057	ENST00000219066	E5KTI5
ENSG00000065057	ENST00000561841	H3BRL9
ENSG00000065057	ENST00000566380	H3BPD5
ENSG00000065057	ENST00000568513	H3BUV2
ENSG00000065057	ENST00000651522	A0A494BZZ6
ENSG00000065057	ENST00000651583	A0A494C106

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Base excision repair	KEGG	ko03410
Base excision repair	KEGG	hsa03410
DNA Repair	REACTOME	R-HSA-73894
Base Excision Repair	REACTOME	R-HSA-73884
Base-Excision Repair, AP Site Formation	REACTOME	R-HSA-73929
Depyrimidination	REACTOME	R-HSA-73928
Recognition and association of DNA glycosylase with site containing an affected pyrimidine	REACTOME	R-HSA-110328
Cleavage of the damaged pyrimidine	REACTOME	R-HSA-110329
Resolution of Abasic Sites (AP sites)	REACTOME	R-HSA-73933
Displacement of DNA glycosylase by APEX1	REACTOME	R-HSA-110357

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
25938944	2015	A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.	89
14734554	2004	Differential specificity of human and Escherichia coli endonuclease III and VIII homologues for oxidative base lesions.	52
17923696	2007	Initiation of base excision repair of oxidative lesions in nucleosomes by the human, bifunctional DNA glycosylase NTH1.	39
16111924	2006	Base excision repair by hNTH1 and hOGG1: a two edged sword in the processing of DNA damage in gamma-irradiated human cells.	38
12519758	2003	Substrate specificity of human endonuclease III (hNTH1). Effect of human APE1 on hNTH1 activity.	34
11328882	2001	Escherichia coli Nth and human hNTH1 DNA glycosylases are involved in removal of 8-oxoguanine from 8-oxoguanine/guanine mispairs in DNA.	23
15533839	2005	DNA glycosylase activities for thymine residues oxidized in the methyl group are functions of the hNEIL1 and hNTH1 enzymes in human cells.	22
12144783	2002	Truncation of amino-terminal tail stimulates activity of human endonuclease III (hNTH1).	21
26559593	2015	Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.	21
27713038	2017	Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.	20

Citation

Dessen P

NTHL1 (nth like DNA glycosylase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41587/nthl1